Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E312*
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LDLR

NM_000527.5:p.E312*

Associated Papers

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P et al.

Human Mutation, 2004

Genetic and polygenic contributions to familial hypercholesterolemia in Thailand: Implications for diagnosis and lipid management.

Pasookhush P et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."